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Links from Nucleotide

Items: 1 to 20 of 58

1.

rs1490660271 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->ATATATATGT,ATATATGT,ATATGT,GT,TT [Show Flanks]
    Chromosome:
    X:17557347 (GRCh38)
    X:17575469 (GRCh37)
    Canonical SPDI:
    NC_000023.11:17557347:T:TATATATATGT,NC_000023.11:17557347:T:TATATATGT,NC_000023.11:17557347:T:TATATGT,NC_000023.11:17557347:T:TGT,NC_000023.11:17557347:T:TTT
    Gene:
    NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TATATATGT=0./0 (ALFA)
    HGVS:
    2.

    rs1488381859 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      X:17557380 (GRCh38)
      X:17575501 (GRCh37)
      Canonical SPDI:
      NC_000023.11:17557379:A:C,NC_000023.11:17557379:A:G
      Gene:
      NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.00001/1 (GnomAD)
      C=0.000019/5 (TOPMED)
      G=0.000045/1 (TOMMO)
      HGVS:
      3.

      rs1487087495 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        X:17557309 (GRCh38)
        X:17575430 (GRCh37)
        Canonical SPDI:
        NC_000023.11:17557308:A:G
        Gene:
        NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000011/1 (GnomAD)
        HGVS:
        4.

        rs1473320642 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          X:17559112 (GRCh38)
          X:17577233 (GRCh37)
          Canonical SPDI:
          NC_000023.11:17559111:T:A
          Gene:
          NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000029/3 (GnomAD)
          HGVS:
          5.

          rs1463776748 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            X:17552400 (GRCh38)
            X:17570521 (GRCh37)
            Canonical SPDI:
            NC_000023.11:17552399:G:C
            Gene:
            NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1448508696 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              X:17557280 (GRCh38)
              X:17575401 (GRCh37)
              Canonical SPDI:
              NC_000023.11:17557279:C:G
              Gene:
              NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000011/3 (TOPMED)
              G=0.000021/2 (GnomAD)
              HGVS:
              7.

              rs1433210336 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                X:17557228 (GRCh38)
                X:17575349 (GRCh37)
                Canonical SPDI:
                NC_000023.11:17557227:A:G
                Gene:
                NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.00001/1 (GnomAD)
                HGVS:
                8.

                rs1432728844 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  X:17557233 (GRCh38)
                  X:17575354 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:17557232:C:G,NC_000023.11:17557232:C:T
                  Gene:
                  NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  T=0.00001/1 (GnomAD)
                  HGVS:
                  9.

                  rs1431341652 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:17552365 (GRCh38)
                    X:17570486 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:17552364:G:A
                    Gene:
                    NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1424719995 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:17557264 (GRCh38)
                      X:17575385 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:17557263:T:C
                      Gene:
                      NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.00001/1 (GnomAD)
                      HGVS:
                      11.

                      rs1421895186 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        X:17552405 (GRCh38)
                        X:17570526 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:17552404:G:A
                        Gene:
                        NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000019/5 (TOPMED)
                        HGVS:
                        12.

                        rs1394663378 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:17552395 (GRCh38)
                          X:17570516 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:17552394:C:T
                          Gene:
                          NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1373274324 has merged into rs61711287 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT [Show Flanks]
                            Chromosome:
                            X:17557343 (GRCh38)
                            X:17575464 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT
                            Gene:
                            NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            ATATATATATATATATAT=0./0 (ALFA)
                            -=0.10649/402 (1000Genomes)
                            -=0.275/11 (GENOME_DK)
                            HGVS:
                            NC_000023.11:g.17557327AT[8], NC_000023.11:g.17557327AT[9], NC_000023.11:g.17557327AT[10], NC_000023.11:g.17557327AT[12], NC_000023.11:g.17557327AT[13], NC_000023.11:g.17557327AT[14], NC_000023.11:g.17557327AT[15], NC_000023.11:g.17557327AT[16], NC_000023.11:g.17557327AT[17], NC_000023.11:g.17557327AT[18], NC_000023.11:g.17557327AT[19], NC_000023.11:g.17557327AT[20], NC_000023.11:g.17557327AT[21], NC_000023.11:g.17557327AT[23], NC_000023.10:g.17575448AT[8], NC_000023.10:g.17575448AT[9], NC_000023.10:g.17575448AT[10], NC_000023.10:g.17575448AT[12], NC_000023.10:g.17575448AT[13], NC_000023.10:g.17575448AT[14], NC_000023.10:g.17575448AT[15], NC_000023.10:g.17575448AT[16], NC_000023.10:g.17575448AT[17], NC_000023.10:g.17575448AT[18], NC_000023.10:g.17575448AT[19], NC_000023.10:g.17575448AT[20], NC_000023.10:g.17575448AT[21], NC_000023.10:g.17575448AT[23], NG_011553.2:g.186908AT[8], NG_011553.2:g.186908AT[9], NG_011553.2:g.186908AT[10], NG_011553.2:g.186908AT[12], NG_011553.2:g.186908AT[13], NG_011553.2:g.186908AT[14], NG_011553.2:g.186908AT[15], NG_011553.2:g.186908AT[16], NG_011553.2:g.186908AT[17], NG_011553.2:g.186908AT[18], NG_011553.2:g.186908AT[19], NG_011553.2:g.186908AT[20], NG_011553.2:g.186908AT[21], NG_011553.2:g.186908AT[23], NR_046632.1:n.57AT[8], NR_046632.1:n.57AT[9], NR_046632.1:n.57AT[10], NR_046632.1:n.57AT[12], NR_046632.1:n.57AT[13], NR_046632.1:n.57AT[14], NR_046632.1:n.57AT[15], NR_046632.1:n.57AT[16], NR_046632.1:n.57AT[17], NR_046632.1:n.57AT[18], NR_046632.1:n.57AT[19], NR_046632.1:n.57AT[20], NR_046632.1:n.57AT[21], NR_046632.1:n.57AT[23]
                            14.

                            rs1338123591 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              X:17552352 (GRCh38)
                              X:17570473 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:17552351:A:G
                              Gene:
                              NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000015/4 (TOPMED)
                              G=0.000019/2 (GnomAD)
                              HGVS:
                              15.

                              rs1335641263 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                X:17552390 (GRCh38)
                                X:17570511 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:17552389:A:G,NC_000023.11:17552389:A:T
                                Gene:
                                NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000066/1 (ALFA)
                                G=0.000008/2 (TOPMED)
                                T=0.00001/1 (GnomAD)
                                HGVS:
                                16.

                                rs1330010282 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  X:17552364 (GRCh38)
                                  X:17570485 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:17552363:G:A
                                  Gene:
                                  NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000029/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1328155490 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    X:17552382 (GRCh38)
                                    X:17570503 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:17552381:C:G
                                    Gene:
                                    NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1319253386 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      X:17557202 (GRCh38)
                                      X:17575323 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:17557201:G:C
                                      Gene:
                                      NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/1 (GnomAD)
                                      C=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1317386900 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        X:17557219 (GRCh38)
                                        X:17575340 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:17557218:G:T
                                        Gene:
                                        NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.00001/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1305642894 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          X:17557326 (GRCh38)
                                          X:17575447 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:17557325:G:T
                                          Gene:
                                          NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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